U tủy thượng thận ở trẻ em - Kiểu gen và kiểu hình

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Tác giả: Trọng Thành Nguyễn, Chí Dũng Vũ

Ngôn ngữ: Vie

Ký hiệu phân loại:

Thông tin xuất bản: Nội tiết và Đái tháo đường 2021

Mô tả vật lý: 94-101

Bộ sưu tập: Metadata

ID: 399903

Thêm vào giỏ Liên kết toàn văn

Pheochromocytomas (PCC) và Pragangliomas (PLG) là những khối u thần kinh - nội tiết. Khối u tiết catecholamine xuất phát từ tủy thượng thận được gọi là Pheochromocytoma. Khối u có nguồn gốc ngoài thượng thận, có thể tiết catecholamine hoặc không có chức năng, bắt nguồn từ các hạch thần kinh giao cảm hoặc phó giao cảm được gọi là Paraganglioma. Vì biểu hiện lâm sàng của hai nhóm bệnh PCC và PLG có tiết catecholamine tương tự nhau, phương pháp điều trị như nhau, nên trên lâm sàng thuật ngữ PCC (u tủy thượng thận) được dùng để chỉ cả 2 loại khối u. U tủy thượng thận là một bệnh lý hiếm gặp ở trẻ em, ước tính tần suất gặp ở 1 trong 50.000 - 100.000 trẻ. Bệnh có thể xuất hiện đơn độc nhưng cũng có thể kèm theo trong một số hội chứng von Hippel - Lindau, bệnh u xơ thần kinh type 1 (NF1) hay hội chứng Pheochromocytoma - Paragangliomas di truyền. Ở trẻ em, khoảng 60% - 80% nguyên nhân u tủy thượng thận là do di truyền. Tăng huyết áp ác tính là một triệu chứng thường gặp và có thể gây những biến chứng nặng nề. Chúng tôi báo cáo 2 trường hợp trẻ nữ vào viện vì đau đầu dữ dội, nôn, đau bụng và co giật. Trẻ được phát hiện tình trạng cao huyết áp kèm theo có khối u ổ bụng. Chẩn đoán xác định của 2 bệnh nhân là u tủy thượng thận. Trong đó, một bệnh nhân tìm thấy nguyên nhân gây bệnh là do đột biết gen succinate dehydrogenase complex iron sulfur subunit B (SDHB)., Tóm tắt tiếng anh, Pheochromocytoma (PCC) and Paraganglioma (PLG) are neuroendocrine tumors. Tumors derived from adrenal medulla secreting catecholamines, called Pheochromocytoma. Tumors with extra adrenal origin, which either secrete cathecholamines or are nonfunctional termed Paraganglioma. Because of similar clinical manifestations and treatment therapies of Phechromocytoma and catecholaminessecreting Paraganglioma, clinicians use the term "pheochromocytoma" to refer to both of tumors. Pherochromocytomas is a rare disease in children with the estimated incidence is about 1 per 50.000 to 100.000 children. This disorder could be sporadic or sometimes it could present as a part of inherit syndromes, such as von Hippel-Lindau syndrome, Neurofibromatosis type 1, heteditary Pheochromocytoma/Paraganglioma. In children, 60% to 80% of cases result from heteditary causes. Malignant hypertension is a common symptom which can lead to variety of severe complications. We report 2 cases presenting sudden headache, nausea, abdominal pain and seizure. The patients were determined as having hypertension accompanied with abdominal mass. Definitive diagnosis was Pheochromocytoma. One in two patients was identified as carrying mutation of gene encoded succinate dehydrogenase complex iron sulfur subunit B (SDHB).

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